Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens


Havasi V., Rowe S. M. , Kolettis P. N. , DAYANGAÇ ERDEN D., Sahin A. , Grangeia A., et al.

FERTILITY AND STERILITY, cilt.94, ss.2122-2127, 2010 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 94 Konu: 6
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.fertnstert.2009.11.044
  • Dergi Adı: FERTILITY AND STERILITY
  • Sayfa Sayısı: ss.2122-2127

Özet

Objective: To investigate whether genetic modifiers of cystic fibrosis (CF) lung disease also predispose to congenital bilateral absence of the vas deferens (CBAVD) in association with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We tested the hypothesis that polymorphisms of transforming growth factor (TGF)-beta 1 (rs 1982073, rs 1800471) and endothelin receptor type A (EDNRA) (rs 5335, rs 1801708) are associated with the CBAVD phenotype.